Variant report

Variant	rs1012844
Chromosome Location	chr4:47952676-47952677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47950304..47952978-chr4:47956246..47958619,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10008818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10049713	0.85[CEU][hapmap]
rs10517201	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs1062858	0.85[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs10938502	0.89[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs10938504	0.87[CEU][hapmap]
rs10938506	0.85[CEU][hapmap]
rs10938509	1.00[CHB][hapmap]
rs11933101	0.80[ASN][1000 genomes]
rs11934632	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs11937912	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs11940319	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11940441	0.80[ASN][1000 genomes]
rs12501949	0.86[ASN][1000 genomes]
rs12504018	0.81[CEU][hapmap]
rs12505333	0.80[ASN][1000 genomes]
rs12506632	0.85[CEU][hapmap]
rs12506863	0.80[ASN][1000 genomes]
rs12507439	0.85[CEU][hapmap]
rs12509520	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12510304	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12512884	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12512988	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12513157	0.89[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs12651301	0.84[CEU][hapmap]
rs1371729	0.85[CEU][hapmap];0.98[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1440221	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1440224	1.00[CHB][hapmap]
rs1440228	0.85[CEU][hapmap]
rs1465885	0.86[ASN][1000 genomes]
rs16860663	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17463534	0.80[ASN][1000 genomes]
rs17573709	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs17573717	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs1822029	0.80[ASN][1000 genomes]
rs1822030	0.85[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs1866689	0.85[CEU][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs1965804	0.86[ASN][1000 genomes]
rs1984713	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1992326	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs2033893	0.85[CEU][hapmap]
rs2165263	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2352470	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs28395298	0.80[EUR][1000 genomes]
rs28460483	0.83[EUR][1000 genomes]
rs28636596	0.83[EUR][1000 genomes]
rs2882949	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs34449323	0.80[ASN][1000 genomes]
rs4031458	0.86[ASN][1000 genomes]
rs4405986	0.81[ASN][1000 genomes]
rs4435717	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4475122	0.80[ASN][1000 genomes]
rs4518214	0.80[ASN][1000 genomes]
rs4565052	0.84[CEU][hapmap]
rs4695278	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs4695280	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4695317	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs55844485	0.86[ASN][1000 genomes]
rs56084299	0.80[ASN][1000 genomes]
rs56686194	0.80[ASN][1000 genomes]
rs56971681	0.86[ASN][1000 genomes]
rs57159058	0.80[ASN][1000 genomes]
rs60535228	0.86[ASN][1000 genomes]
rs62298261	0.80[ASN][1000 genomes]
rs62298266	0.84[ASN][1000 genomes]
rs62298267	0.84[ASN][1000 genomes]
rs62298302	0.86[ASN][1000 genomes]
rs62298303	0.86[ASN][1000 genomes]
rs62299256	0.80[ASN][1000 genomes]
rs62299257	0.80[ASN][1000 genomes]
rs62299258	0.80[ASN][1000 genomes]
rs62301163	0.80[ASN][1000 genomes]
rs6447591	0.80[ASN][1000 genomes]
rs66901846	0.86[ASN][1000 genomes]
rs6819172	0.89[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs6823184	0.85[CEU][hapmap]
rs6823698	0.85[CEU][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs6844066	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs6845064	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs6848667	0.86[ASN][1000 genomes]
rs6858440	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs7654965	0.80[ASN][1000 genomes]
rs7690499	0.80[ASN][1000 genomes]
rs7699225	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs8180146	0.85[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs978094	0.85[CEU][hapmap]
rs9995122	0.85[CEU][hapmap];0.98[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs9997555	0.85[CEU][hapmap];0.93[GIH][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1012844	CORIN	cis	Whole Blood	GTEx
rs1012844	RP11-121C2.2	cis	Whole Blood	GTEx
rs1012844	NFXL1	cis	Whole Blood	GTEx
rs1012844	OCIAD1	cis	parietal	SCAN
rs1012844	CNGA1	cis	Muscle Skeletal	GTEx

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47950600-47953600	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links